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Metatropic Dysplasia of Nonlethal Variant in a Chinese Child – A Case Report
Metatropic dysplasia (MD), is a rare skeletal dysplasia occurring predominantly in infants characterized by a distinctive long torso and short limbs; it is as a result of mutations in the TRPV4 gene. However, a clear distinction between various forms of skeletal dysplasias caused by the transient re...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons Australia, Ltd
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031589/ https://www.ncbi.nlm.nih.gov/pubmed/31808622 http://dx.doi.org/10.1111/os.12546 |